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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 14-23392964-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=23392964&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 23392964,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002471.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "NM_002471.4",
"protein_id": "NP_002462.2",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": "ENST00000405093.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002471.4"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000405093.9",
"protein_id": "ENSP00000386041.3",
"transcript_support_level": 5,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3266,
"cdna_end": null,
"cdna_length": 5940,
"mane_select": "NM_002471.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405093.9"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3232A>G",
"hgvs_p": "p.Ser1078Gly",
"transcript": "ENST00000968262.1",
"protein_id": "ENSP00000638321.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1950,
"cds_start": 3232,
"cds_end": null,
"cds_length": 5853,
"cdna_start": 3303,
"cdna_end": null,
"cdna_length": 6363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968262.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968257.1",
"protein_id": "ENSP00000638316.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1947,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5844,
"cdna_start": 3298,
"cdna_end": null,
"cdna_length": 6407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968257.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968271.1",
"protein_id": "ENSP00000638330.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1946,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5841,
"cdna_start": 3271,
"cdna_end": null,
"cdna_length": 5970,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968271.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3217A>G",
"hgvs_p": "p.Ser1073Gly",
"transcript": "ENST00000968258.1",
"protein_id": "ENSP00000638317.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3217,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3319,
"cdna_end": null,
"cdna_length": 6380,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968258.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3217A>G",
"hgvs_p": "p.Ser1073Gly",
"transcript": "ENST00000968274.1",
"protein_id": "ENSP00000638333.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3217,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3376,
"cdna_end": null,
"cdna_length": 6054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968274.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3217A>G",
"hgvs_p": "p.Ser1073Gly",
"transcript": "ENST00000968289.1",
"protein_id": "ENSP00000638348.1",
"transcript_support_level": null,
"aa_start": 1073,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3217,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3430,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968289.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968250.1",
"protein_id": "ENSP00000638309.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 6520,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968250.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968253.1",
"protein_id": "ENSP00000638312.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968253.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968255.1",
"protein_id": "ENSP00000638314.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3351,
"cdna_end": null,
"cdna_length": 6410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968255.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968256.1",
"protein_id": "ENSP00000638315.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3380,
"cdna_end": null,
"cdna_length": 6050,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968256.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968259.1",
"protein_id": "ENSP00000638318.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3364,
"cdna_end": null,
"cdna_length": 6448,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968259.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968261.1",
"protein_id": "ENSP00000638320.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3911,
"cdna_end": null,
"cdna_length": 6975,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968261.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968281.1",
"protein_id": "ENSP00000638340.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3289,
"cdna_end": null,
"cdna_length": 5964,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968281.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968282.1",
"protein_id": "ENSP00000638341.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968282.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968283.1",
"protein_id": "ENSP00000638342.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5820,
"cdna_start": 3295,
"cdna_end": null,
"cdna_length": 5972,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968283.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968287.1",
"protein_id": "ENSP00000638346.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
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"cdna_start": 3331,
"cdna_end": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000968287.1"
},
{
"aa_ref": "S",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968288.1",
"protein_id": "ENSP00000638347.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
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"cdna_start": 3409,
"cdna_end": null,
"cdna_length": 6469,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968288.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968290.1",
"protein_id": "ENSP00000638349.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1939,
"cds_start": 3199,
"cds_end": null,
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"cdna_start": 3673,
"cdna_end": null,
"cdna_length": 6352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968290.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968252.1",
"protein_id": "ENSP00000638311.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3199,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3360,
"cdna_end": null,
"cdna_length": 6440,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968252.1"
},
{
"aa_ref": "S",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH6",
"gene_hgnc_id": 7576,
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly",
"transcript": "ENST00000968254.1",
"protein_id": "ENSP00000638313.1",
"transcript_support_level": null,
"aa_start": 1067,
"aa_end": null,
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_002471.4",
"gene_symbol": "MYH6",
"hgnc_id": 7576,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3199A>G",
"hgvs_p": "p.Ser1067Gly"
}
],
"clinvar_disease": "Cardiovascular phenotype,Hypertrophic cardiomyopathy 14,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:4",
"phenotype_combined": "not specified|not provided|Hypertrophic cardiomyopathy 14|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}